1.Two cases of common variable immunodeficiency in adults
Chang-Gyu JUNG ; Ji-Ho LEE ; Jae-Hyuk JANG ; Yoo Seob SHIN ; Hae-Sim PARK
Allergy, Asthma & Respiratory Disease 2026;14(1):38-43
Common variable immunodeficiency (CVID) is a heterogeneous primary immunodeficiency characterized by reduced levels of immunoglobulin (Ig)G, with or without IgA and/or IgM deficiency, and hypogammaglobulinemia. Clinical manifestations are diverse, ranging from recurrent infections to autoimmune and allergic diseases. While CVID has been rarely reported in the Korean population, particularly in adults, we report 2 adult cases of CVID comorbid with asthma and Behcet’s disease. The first case of a 53-year-old with severe allergic asthma and chronic rhinosinusitis experienced recurrent respiratory infections, stomatitis, and cystitis requiring frequent antibiotic treatment. Laboratory findings indicated a T2-high asthma phenotype, with elevated serum total IgE specific IgE to dog hair and fractional exhaled nitric oxide. Immunological evaluation revealed decreased serum IgG (including IgG1 and IgG2), along with hypogammaglobulinemia. She had been treated with regular anti-IgE antibody therapy and intravenous immunoglobulin replacement therapy (IVIGRT). The second case of a 38-year-old with Behçet’s disease and uveitis had bronchial asthma and rhinitis that were exacerbated by recurrent infections despite standard asthma therapy. Laboratory findings revealed a T2-low phenotype and a marked reduction in serum IgG (including IgG1, IgG2, and IgG4), and hypogammaglobulinemia, consistent with CVID.IVIGRT effectively reduced asthma exacerbations and infection episodes in both cases. These cases highlight the clinical heterogeneity of CVID and its potential overlap with allergic and autoimmune diseases. Immunological evaluation of underlying immunodeficiency should be considered in adult patients with asthma who present with frequent exacerbations and recurrent infections. Early diagnosis and IVIGRT can prevent complications and improve outcomes.
2.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2026;34(1):108-108
3.The Korean Rectal Cancer Multidisciplinary Committee Clinical Practice Guidelines for Rectal Cancer version 2.0
Hyo Seon RYU ; Hyun Jung KIM ; Dong Hyun KANG ; Yoo-Kang KWAK ; Han Deok KWAK ; Yoon-Hye KWON ; Dalyon KIM ; Baek-Hui KIM ; Jae Hyun KIM ; Ji Hun KIM ; Jin Won KIM ; Tae Hyung KIM ; Hae Young KIM ; Soo Min NAM ; Gyoung Tae NOH ; Jun Woo BONG ; Nak Song SUNG ; Seon Hui SHIN ; Kil-Yong LEE ; Sung Chul LEE ; Sea-Won LEE ; Jung Won LEE ; Jong Min LEE ; Myung Hoon IHN ; Joo Han LIM ; Woong Bae JI ; Dae Hee PYO ; Young Ki HONG ; Jung-Myun KWAK ;
Annals of Coloproctology 2026;42(1):4-33
Rectal cancer, which accounts for approximately 40% of colorectal cancers, remains a major clinical concern. Recent advances in diagnostic imaging, surgical techniques, radiotherapy, and systemic treatment have steadily improved rectal cancer outcomes. Considering this, the Korean Rectal Cancer Multidisciplinary (KRCM) Committee has aimed to provide clinicians and policymakers with up-to-date, evidence-based clinical practice guidelines to support optimal decision-making, reflecting current evidence, the Korean healthcare context, and patient values and preferences. The Clinical Practice Guidelines for Rectal Cancer version 2.0 were developed through multidisciplinary collaboration with related academic societies, building upon and updating the KRCM Clinical Practice Guidelines version 1.0 (titled “Multidisciplinary guidelines for the management of rectal cancer”). These consensus guidelines of the KRCM were established based on a comprehensive literature review, evidence synthesis, with recommendation development guided by the GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology, and consideration of applicability in real-world clinical practice under the national health insurance system. Each recommendation has been presented with its strength and level of evidence.
4.Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia
Hyun-Young KIM ; Boram KIM ; Min-Seung PARK ; Jong-Ho PARK ; Hee Young JU ; Keon Hee YOO ; Jun Ho JANG ; Chul Won JUNG ; Hee-Jin KIM
Annals of Laboratory Medicine 2026;46(3):257-269
Background:
Fusion genes are major drivers of acute leukemia. Conventional diagnostics are limited in detecting the diverse fusions included in recently updated acute leukemia classifications. We evaluated the fusion detection performance of RNA sequencing (RNAseq) compared with that of conventional diagnostics in patients with acute leukemia.
Methods:
We retrospectively obtained the data of 101 patients with acute leukemia who underwent conventional diagnostics (i.e., karyotyping, FISH, or multiplex reverse transcription PCR) at diagnosis at Samsung Medical Center, Seoul, Korea, between September 2022 and September 2023. Whole RNA-seq was performed using the Illumina Stranded mRNA Prep kit (Illumina, San Diego, CA, USA). The concordance, sensitivity, and specificity of RNA-seq for fusion gene detection were compared with those of conventional diagnostics.
Results:
RNA-seq helped identify 52 fusion genes in 51 (50.5%) of 101 patients, with detection rates of 40.7%, 70.3%, 37.5%, and 50% in acute myeloid leukemia, B-cell acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemia, and mixed-phenotype acute leukemia, respectively. RNA-seq showed 83.3% sensitivity and 80.8% concordance with conventional diagnostics; it missed eight fusions, likely because of low transcript abundance or enhancer hijacking. RNA-seq also helped clarify three previously unspecified rearrangements and detected 12 fusions (21.4%) in 56 cases that tested negative with conventional diagnostics, including four novel (KMT2A::THAP12 , RUNX1::PRPF19 , MLLT10::UBE2L6, and FUS::ZNF362) and three rare (HNRNPH1::ERG, RUNX1::USP42, and ETV6::NCOA2) fusions.
Conclusions
This was the first study to evaluate the performance of whole RNA-seq in fusion detection in patients with acute leukemia in Korea. Incorporating RNA-seq into diagnostic workflows may facilitate earlier and more precise therapeutic decisions and improve prognostic assessment in patients with acute leukemia.
5.Final adult height in male patients with central precocious puberty after gonadotropin-releasing hormone agonist treatment
Kyoung Won CHO ; Youn Kyoung KIM ; Ji Eun YOO ; Joon Young KIM ; Seo Jung KIM ; Sujin KIM ; Youngha CHOI ; Kyungchul SONG ; Eun Byeol LEE ; Hyun Wook CHAE ; Junghwan SUH
Annals of Pediatric Endocrinology & Metabolism 2026;31(1):30-37
Purpose:
We aimed to compare the final adult height (FAH) of male patients with central precocious puberty (CPP) after treatment with a gonadotropin-releasing hormone agonist (GnRHa). Specifically, we compared FAH with the target height (TH) and the predicted adult height (PAH) before and after GnRHa treatment to quantify height gain and identify predictive factors.
Methods:
We retrospectively reviewed the medical records of 92 male patients with CPP and known FAH after GnRHa treatment at the Department of Pediatrics of Severance Children’s Hospital between January 2000 and June 2024.
Results:
The mean duration of GnRHa treatment was 2.7±1.3 years. A significant 1.1±0.9 years narrowing was observed in the difference between bone age (BA) and chronological age (CA) during treatment (P<0.001). TH was 172.4±3.4 cm. FAH was 173.6±6.4 cm. FAH was greater than TH by 1.2±5.9 cm (P=0.047). PAH before and after treatment was 179.9±8.1 and 181.2±7.4 cm, respectively. PAH was increased by 1.3±4.9 cm (P=0.012) after treatment. As the PAH standard deviation score (SDS) before GnRHa treatment increased, FAH tended to exceed TH. In contrast, higher testosterone levels before treatment are associated with FAH falling below TH. A longer duration of treatment and taller TH are associated with an FAH SDS greater than height SDS before treatment. Conversely, a greater weight SDS, BA–CA difference, and testis size before treatment are associated with FAH SDS being less than height SDS before GnRHa treatment.
Conclusion
GnRHa treatment improved FAH and inhibited bone maturation in male patients with CPP.
6.Tumor-Associated Macrophage Infiltration and PD-L1 Expression in Gastric Cancer According to a Modified TCGA-Based Classification
Boram SONG ; Dong-Hoe KOO ; Eo Jin KIM ; In-Gu DO ; Jinah CHU ; Kyungeun KIM ; Hyebin LEE ; Min-Jung KWON ; Jung Ho PARK ; Byung Ho SON ; Chang Hak YOO ; Seoung Wan CHAE
Journal of Gastric Cancer 2026;26(2):247-259
Purpose:
Although gastric cancer (GC) exhibits significant genomic heterogeneity, the clinical implications of its immune microenvironment remain poorly understood.
Materials and Methods:
We retrospectively evaluated patients with GC who underwent gastrectomies between 2011 and 2014. The tumors were analyzed for Epstein–Barr virus (EBV), microsatellite instability-high (MSI-H), tumor-infiltrating lymphocytes (CD3), tumor-associated macrophages (CD68 and CD163), and programmed death-ligand 1 (PD-L1) expression. Tumors were classified using the modified The Cancer Genome Atlas scheme, and their clinical characteristics were compared.
Results:
A total of 567 patients were classified into EBV (6%), MSI-H (10%), chromosomal instability-like (36%), and genomically stable-like (48%) subtypes. EBV tumors exhibited the highest PD-L1 expression (85%) and immune infiltration by CD3+ T cells (86%), CD68+ macrophages (58%), and CD163+ macrophages (40%). High CD68+ macrophage tumors were associated with advanced stages and worse 5-year disease-free survival (83% vs. 95%; P<0.001);however, this association was not independently significant after adjusting for the tumor-nodemetastasis stage. PD-L1 expression did not significantly affect the survival outcomes.
Conclusions
GC subtypes have distinct immune microenvironments that influence prognosis. Our findings highlight the prognostic and therapeutic potential of immune profiling in GC.
7.Artificial intelligence in nursing practice for older adults with dementia: A narrative review informed by bibliometric mapping and implications for nurse-led research
Dukyoo JUNG ; Hyein SEO ; Leeho YOO
Journal of Korean Gerontological Nursing 2026;28(2):125-133
This narrative review aimed to (1) map the global research landscape of artificial intelligence (AI) in dementia care, (2) characterize domestic Korean research, and (3) propose priority directions for nurse-led AI research. Methods: International literature was retrieved from PubMed (January 2015 to December 2025; n=5,710) and analyzed using VOSviewer with the Leiden algorithm. Korean literature from RISS (n=265) was synthesized narratively. Results: Publications increased substantially since 2015, with acceleration after 2024 driven by large language models. Five thematic clusters emerged: (1) care, daily living, and digital health; (2) aging and brain structure; (3) risk prediction and clinical data; (4) early screening and behavioral biomarkers; and (5) Alzheimer’s diagnosis and deep learning. Four domains were most relevant to nursing: monitoring technologies, digital biomarkers, AI chatbots for caregivers, and clinical decision support systems. Korean research concentrated on emotional support robots with methodological limitations. Conclusion: Rigorous nurse-led trials with multidimensional outcomes are needed to establish AI’s clinical value in dementia nursing.
8.Clinical Outcomes of Endoscopic Radiofrequency Stretta Therapy for Gastroesophageal Reflux Disease Treatment: A Retrospective Analysis From2 Tertiary Centers in Korea
Hyun LIM ; Yuri KIM ; Jin Hee NOH ; Jung In LEE ; Eun Jeong GONG ; Boram CHA ; Chan Hyuk PARK ; Da Hyun JUNG ; Ju Yup LEE ; Sun Hyung KANG ; In Kyung YOO ; Joo Young CHO ; Do Hoon KIM ;
Journal of Neurogastroenterology and Motility 2026;32(2):290-297
Background/Aims:
Endoscopic anti-reflux therapy is a therapeutic option for gastroesophageal reflux disease (GERD), providing durable effects. However, clinical data from Korea remain limited. This study evaluates the clinical outcomes of endoscopic radiofrequency Stretta therapy in Korean patients.
Methods:
A retrospective analysis was conducted on 71 patients with GERD who underwent Stretta therapy at 2 tertiary hospitals in Korea between November 2015 and July 2021. Clinical outcomes, including patient satisfaction, medication cessation or reduction, and complications, were evaluated. Pre- and post-procedural esophageal manometry and 24-hour pH monitoring test results were also analyzed.
Results:
Patient satisfaction rates at 1, 6, and 12 months post-procedure were 54.7% (35/64), 70.0% (28/40), and 75.0% (21/28), respectively. Medication cessation or reduction was achieved in 31.2% (20/64) at 1 month, 70.0% (28/40) at 6 months, and 67.9% (19/28) at 12 months. Esophageal manometry (n = 21) showed no significant changes in mean lower esophageal sphincter pressure (18.7 mmHg [2.5-52.9] vs 17.4 mmHg [0.0-43.0], P = 0.702) or mean integrated relaxation pressure (8.2 mmHg [0.0-28.0] vs 10.1 mmHg [0.0-31.0], P = 0.840). The 24-hour pH monitoring (n = 18) demonstrated a nonsignificant decrease in acid exposure time (pH < 4) from 2.3% (0.0-8.4) to 1.6% (0.0-7.3) (P = 0.182). Similarly, the DeMeester score decreased non-significantly from 8.4 (0.8-27.7) to 6.6 (0.8-21.8) (P = 0.352). No procedure-related complications occurred.
Conclusion
Endoscopic radiofrequency Stretta therapy appears to be a safe treatment option for GERD and may provide favorable patient satisfaction and medication reduction.
9.Gallbladder Cancer in a Patient with Anomalous Union of the Pancreaticobiliary Duct: A Case Report
Jeongwoo KIM ; Kyo-Sang YOO ; Kyoung A KO ; Hyeongseok LEE ; Dong Kyu LEE ; Jiwoong JANG ; Sung Hee JUNG
Korean Journal of Pancreas and Biliary Tract 2026;31(1):24-29
Anomalous union of the pancreaticobiliary duct (AUPBD) is a congenital malformation in which the pancreatic and biliary ducts join outside the duodenal wall, forming an elongated common channel. Because sphincter action does not directly affect this junction, reciprocal reflux of pancreatic juice and bile occurs, increasing the risk of biliary tract cancer. AUPBD is frequently associated with choledochal cysts and is a known risk factor for biliary malignancies. We report a case of a 70-year-old woman diagnosed with gallbladder cancer with liver metastases, accompanied by AUPBD without choledochal cysts. She presented with upper abdominal pain, obstructive jaundice, and a large hepatic mass on imaging. Endoscopic retrograde cholangiopancreatography confirmed pancreatobiliary-type AUPBD. Despite biliary drainage, her condition rapidly deteriorated and she died soon after. This case underscores the role of AUPBD in carcinogenesis and the need for early recognition and management.
10.Ultrasound Imaging Features Associated With Neoplastic Gallbladder Polyps: A Systematic Review and Meta-Analysis
Sunyoung LEE ; Won CHANG ; Yeun-Yoon KIM ; Jin Young PARK ; Sun Kyung JEON ; Jeong Eun LEE ; Jeongin YOO ; Seungchul HAN ; So Hyun PARK ; Jae Hyun KIM ; Hyo Jung PARK ; Hyun-Soo ZHANG ; Jeong Hee YOON
Korean Journal of Radiology 2026;27(4):332-343
Objective:
Although most gallbladder polyps are benign, some neoplastic polyps may be malignant or may serve as precursors to malignancy. Distinguishing neoplastic and non-neoplastic polyps using imaging examinations remains a major challenge.This meta-analysis aimed to identify the ultrasound (US) features that are significantly associated with neoplastic polyps.
Materials and Methods:
The MEDLINE, EMBASE, Cochrane, and KoreaMed databases were searched for articles published up to August 31, 2025. Bivariate random-effects models were used to calculate the meta-analytic pooled diagnostic odds ratios (DORs), sensitivities, and specificities, along with their 95% confidence intervals (CIs), for each US imaging feature in the diagnosis of neoplastic polyps.
Results:
Thirty studies evaluating 8,953 patients, including 1,216 (13.6%) patients with neoplastic polyps, were included.Among the nine evaluated US imaging features, namely, size ≥10 mm, sessile morphology, single polyp, coexisting gallstones, hypoechogenicity, heterogeneous echogenicity, gallbladder wall thickening (GBWT), absence of hyperechoic spot, and vascularity, eight were significantly associated with neoplastic polyps: size ≥10 mm (DOR: 6.23 [95% CI: 1.86– 20.90]), sessile morphology (DOR: 3.54 [1.93–5.97]), single polyp (DOR: 2.21 [1.76–2.74]), coexisting gallstones (DOR:1.86 [1.29–2.60]), hypoechogenicity (DOR: 3.55 [1.47–7.30]), GBWT (DOR: 9.38 [1.47–32.20]), absence of hyperechoic spots (DOR: 4.23 [2.46–6.83]), and vascularity (DOR: 9.72 [5.81–15.30]). Of these, size ≥10 mm demonstrated the highest pooled sensitivity (0.79 [95% CI: 0.68–0.87]), whereas hypoechogenicity showed the highest pooled specificity (0.93 [95% CI: 0.82–0.98]).
Conclusion
Eight US imaging features (size ≥10 mm, sessile morphology, single polyp, coexisting gallstones, hypoechogenicity, GBWT, absence of hyperechoic spots, and vascularity) were significantly associated with the presence of neoplastic polyps.These features may facilitate the management of gallbladder polyps.

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